COL2A1-related spondyloepiphyseal dysplasia
MONDO:0100602Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes.
3 clinical trials for this condition and its sub-types.
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Broader categories
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Eye surgery trial to prevent blindness in stickler syndrome pulled before start
Prevention CancelledThis study aimed to see if a surgical procedure called scleral buckling could prevent retinal detachment in people with Stickler syndrome, a genetic condition that raises the risk of vision loss. The plan was to treat one eye in patients aged 5 to 35 who had already lost vision i…
Phase 2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Prevention
Last updated Jun 27, 2026 12:29 UTC